Genetic Causes of Cardiac Hypertrophy

Researchers have identified many genetic causes of adult-onset hypertrophic cardiomyopathy, but the role of genetic factors in childhood-onset hypertrophy is not well characterized. In adults, the condition has been linked to mutations in various genes, including those that encode sarcomere proteins.

These investigators examined DNA from 84 unrelated children (63 boys and 21 girls) with isolated, unexplained LV hypertrophy (wall thickness >2 standard deviations above normal-population mean) that was diagnosed before 15 years of age (mean, 7 years; range, 2 days–15 years). A family history of cardiomyopathy was present in 33 children. Forty-six subjects (55%) had at least one gene mutation that could have been responsible for the disorder. De…